Canonical Allele Identifier: CA2594127696
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v3: 17-42911112-GAC-G
gnomAD v4: 17-42911112-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911115_42911116del , CM000679.2:g.42911115_42911116del GRCh38
NC_000017.10:g.41063132_41063133del , CM000679.1:g.41063132_41063133del GRCh37
NC_000017.9:g.38316658_38316659del NCBI36
NG_011808.1:g.15318_15319del , LRG_147:g.15318_15319del

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.763_764del MANE Select ENSP00000253801.1:p.Thr255HisfsTer?
ENST00000253801.6:c.763_764del ENSP00000253801.1:p.Thr255HisfsTer?
ENST00000585489.1:c.*155_*156del ENSP00000466202.1:n.*155_*156del
ENST00000592383.5:c.*155_*156del ENSP00000465958.1:n.*155_*156del
NM_000151.3:c.763_764del NP_000142.2:p.Thr255HisfsTer?
NM_001270397.1:c.*155_*156del NP_001257326.1:n.*155_*156del
NM_000151.4:c.763_764del MANE Select NP_000142.2:p.Thr255HisfsTer?
NM_001270397.2:c.*155_*156del NP_001257326.1:n.*155_*156del
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